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rs199473556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473556(C;T)
Make rs199473556(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630342
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473556
dbSNP (classic)rs199473556
ClinGenrs199473556
ebirs199473556
HLIrs199473556
Exacrs199473556
Gnomadrs199473556
Varsomers199473556
LitVarrs199473556
Maprs199473556
PheGenIrs199473556
Biobankrs199473556
1000 genomesrs199473556
hgdprs199473556
ensemblrs199473556
geneviewrs199473556
scholarrs199473556
googlers199473556
pharmgkbrs199473556
gwascentralrs199473556
openSNPrs199473556
23andMers199473556
SNPshotrs199473556
SNPdbers199473556
MSV3drs199473556
GWAS Ctlgrs199473556
Max Magnitude0
ClinVar
Risk rs199473556(T;T)
Alt rs199473556(T;T)
Reference Rs199473556(C;C)
Significance Probable-Pathogenic
Disease Brugada syndrome not provided
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38671833G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058582.2, RCV000413145.1,